Some neurological defects like hydrocephaly, lissencephaly, partial agenesis of the corpus callosum are also reported with the Proteus syndrome. 112 It may cause paraspinal hamartoma. 110 Protuberance of the skull, 113 structural and functional asymmetry of the central nervous system, 114 hydrocephalus and mental retardation are also some features of proteus syndrome. 113 Epilepsy and ohtahara syndrome is diagnosed in children affected by Proteus syndrome associated with infantile spasms, myoclonia, and partial epilepsy in newborn infants. 108
In Hutchinson-Gilford progeria syndrome (HGPS), diffuse encephalopathy, and Pseudotumor cerebri has been reported. 49 Even a mild head injury can cause intracranial pathology in a progeria patient. Progressive …show more content…
Marfan syndrome, Proteus syndrome, and Progeria are one of the most recognized mutation related diseases caused by mutation of FBN1, AKT1, and LMNA genes correspondingly. If we go through the Clinical features and systemic involvements of these mutations, we can find common involvement of musculo-skeletal system, cardiovascular system, eye, and nervous system. In musculo-skeletal system, deviations of spinal curvature, abnormalities in the extremities, skull, and facial bones are reported in all the three mutations. All cause abnormal flexion and limited range of motion of joints. In cardiovascular system, all the three mutations have reported abnormality of the aorta and cardiac conductive system. Contractile dysfunction of heart and hyperplasia of arterial wall have been seen in common too. In case of eye, Marfan syndrome, Proteus syndrome, and progeria share many clinical features. All cause cataract, strabismus, and refractive errors along with same kind of retinal and corneal abnormalities. These mutations also have described some common nervous system features where all cause meningeal abnormalities, neurovascular abnormalities, congenital and developmental abnormalities. Stroke has been seen in all the three cases too. Though the mentioned mutations have certain individual unique characteristics too, the outcomes indicate that there can be some relation among the proteins related to these mutations, or among the genes of which modification occurs. The results of this review will enrich the field of genetic research and medicine. Furthermore, this study can help to acknowledge the reported sign & symptoms of three diseases and inter-relation among them. Additionally, it is recommended to have more attention in this
In Hutchinson-Gilford progeria syndrome (HGPS), diffuse encephalopathy, and Pseudotumor cerebri has been reported. 49 Even a mild head injury can cause intracranial pathology in a progeria patient. Progressive …show more content…
Marfan syndrome, Proteus syndrome, and Progeria are one of the most recognized mutation related diseases caused by mutation of FBN1, AKT1, and LMNA genes correspondingly. If we go through the Clinical features and systemic involvements of these mutations, we can find common involvement of musculo-skeletal system, cardiovascular system, eye, and nervous system. In musculo-skeletal system, deviations of spinal curvature, abnormalities in the extremities, skull, and facial bones are reported in all the three mutations. All cause abnormal flexion and limited range of motion of joints. In cardiovascular system, all the three mutations have reported abnormality of the aorta and cardiac conductive system. Contractile dysfunction of heart and hyperplasia of arterial wall have been seen in common too. In case of eye, Marfan syndrome, Proteus syndrome, and progeria share many clinical features. All cause cataract, strabismus, and refractive errors along with same kind of retinal and corneal abnormalities. These mutations also have described some common nervous system features where all cause meningeal abnormalities, neurovascular abnormalities, congenital and developmental abnormalities. Stroke has been seen in all the three cases too. Though the mentioned mutations have certain individual unique characteristics too, the outcomes indicate that there can be some relation among the proteins related to these mutations, or among the genes of which modification occurs. The results of this review will enrich the field of genetic research and medicine. Furthermore, this study can help to acknowledge the reported sign & symptoms of three diseases and inter-relation among them. Additionally, it is recommended to have more attention in this